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pro vyhledávání: '"Amanda, Cali"'
Autor:
Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduou
Externí odkaz:
https://doaj.org/article/df6909682f63467183f8f32298f70fcf
Autor:
Mona, Al Mukaddam, Katherine S, Toder, Michelle, Davis, Amanda, Cali, Moira, Liljesthröm, Suzanne, Hollywood, Kim, Croskery, Anne-Sophie, Grandoulier, Elaine A, Böing, John D, Whalen, Frederick S, Kaplan
Publikováno v:
Expert Review of Pharmacoeconomics & Outcomes Research. 22:1199-1213
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, genetic disorder of heterotopic ossification within soft, connective tissues resulting in limited joint function and severe disability. We present results from an international burden of i
Autor:
Mona Al Mukaddam, Katherine S Toder, Michelle Davis, Amanda Cali, Christopher Bedford-Gay, Moira Liljesthröm, Suzanne Hollywood, Kim Croskery, Anne-Sophie Grandoulier, Elaine A Böing, John D Whalen, Frederick S Kaplan
Publikováno v:
Future Rare Diseases. 2
What is this article about? Fibrodysplasia ossificans progressiva (also known as FOP) is a very rare genetic condition. In FOP, bone forms in places where it would not normally, such as muscles, tendons, and ligaments. This leads to loss of movement
Autor:
Odette Schwegler, Frederick S. Kaplan, Nicola Ezra, Mona Al Mukaddam, Clive S. Friedman, Amanda Cali, Patricia Delai, Christiaan Scott, Vanda Harries
Publikováno v:
Rheumatology. 60
While looking for one, you may find another: Tin Soldiers and the search for undiagnosed individuals with Fibrodysplasia Ossificans Progressiva (FOP) Background FOP is an ultra-rare condition where heterozygous, gain-of-function missense mutations in
Autor:
Robert J. Diecidue, Edward C. Hsiao, Clive S. Friedman, Keqin Zhang, Elisabeth M.W. Eekhoff, Tae Joon Cho, Mona Al Mukaddam, Richard Keen, Zvi Grunwald, Maja Di Rocco, Coen Netelenbos, Matthew A. Brown, Amanda Cali, F.S. Kaplan, Patricia Delai, Geneviève Baujat, Michael Zasloff, Carmen De Cunto, Robert J. Pignolo, Rolf Morhart, Nobuhiko Haga, Christiaan Scott
Publikováno v:
British Journal of Clinical Pharmacology
British Journal of Clinical Pharmacology, 85(6), 1199-1207. Wiley-Blackwell
British journal of clinical pharmacology, vol 85, iss 6
Hsiao, E C, di Rocco, M, Cali, A, Zasloff, M, Al Mukaddam, M, Pignolo, R J, Grunwald, Z, Netelenbos, C, Keen, R, Baujat, G, Brown, M A, Cho, T-J, de Cunto, C, Delai, P, Haga, N, Morhart, R, Scott, C, Zhang, K, Diecidue, R J, Friedman, C S, Kaplan, F S & Eekhoff, E M W 2019, ' Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP) ', British Journal of Clinical Pharmacology, vol. 85, no. 6, pp. 1199-1207 . https://doi.org/10.1111/bcp.13777
British Journal of Clinical Pharmacology, 85(6), 1199-1207. Wiley-Blackwell
British journal of clinical pharmacology, vol 85, iss 6
Hsiao, E C, di Rocco, M, Cali, A, Zasloff, M, Al Mukaddam, M, Pignolo, R J, Grunwald, Z, Netelenbos, C, Keen, R, Baujat, G, Brown, M A, Cho, T-J, de Cunto, C, Delai, P, Haga, N, Morhart, R, Scott, C, Zhang, K, Diecidue, R J, Friedman, C S, Kaplan, F S & Eekhoff, E M W 2019, ' Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP) ', British Journal of Clinical Pharmacology, vol. 85, no. 6, pp. 1199-1207 . https://doi.org/10.1111/bcp.13777
Clinical trials for orphan diseases are critical for developing effective therapies. One such condition, fibrodysplasia ossificans progressiva (FOP; MIM#135100), is characterized by progressive heterotopic ossification (HO) that leads to severe disab
Autor:
David M. Rocke, Eileen M. Shore, Lixin Kan, Jonathan B. Strober, Jeannie Peeper, Frederick S. Kaplan, Patricia Delai, Jennifer Snow, Robert J. Pignolo, Rolf Morhart, Joseph A. Kitterman, Amanda Cali
Publikováno v:
Journal of neurology, vol 259, iss 12
Fibrodysplasia ossificans progressiva (FOP), a rare, disabling condition caused by gain-of-function mutations of a bone morphogenetic protein (BMP) type I receptor, leads to episodes of heterotopic ossification and resultant immobility. Neurological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7f88abeaeaf0d90ae2b97b74cca05e
https://escholarship.org/uc/item/85z1j3qt
https://escholarship.org/uc/item/85z1j3qt